Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.25891720A=CA2383551592APPc.2211+2T= (p.=)
c.1986+2T= (p.=)
c.1818+2T= (p.=)
c.2154+2T= (p.=)
c.2157+2T= (p.=)
c.1881+2T= (p.=)
c.2043+2T= (p.=)
c.2139+2T= (p.=)
n.558+2T=
c.2100+2T= (p.=)
c.1932+2T= (p.=)
21g.25891720A>CCA9987046APPc.2211+2T>G (p.=)
c.1986+2T>G (p.=)
c.1818+2T>G (p.=)
c.2154+2T>G (p.=)
c.2157+2T>G (p.=)
c.1881+2T>G (p.=)
c.2043+2T>G (p.=)
c.2139+2T>G (p.=)
n.558+2T>G
c.2100+2T>G (p.=)
c.1932+2T>G (p.=)
dbSNP ExAC gnomAD
21g.25891720A>GCA409805406APPc.2211+2T>C (p.=)
c.1986+2T>C (p.=)
c.1818+2T>C (p.=)
c.2154+2T>C (p.=)
c.2157+2T>C (p.=)
c.1881+2T>C (p.=)
c.2043+2T>C (p.=)
c.2139+2T>C (p.=)
n.558+2T>C
c.2100+2T>C (p.=)
c.1932+2T>C (p.=)
21g.25891720A>TCA409805407APPc.2211+2T>A (p.=)
c.1986+2T>A (p.=)
c.1818+2T>A (p.=)
c.2154+2T>A (p.=)
c.2157+2T>A (p.=)
c.1881+2T>A (p.=)
c.2043+2T>A (p.=)
c.2139+2T>A (p.=)
n.558+2T>A
c.2100+2T>A (p.=)
c.1932+2T>A (p.=)
21g.25891721C>ACA409805409APPc.2211+1G>T (p.=)
c.1986+1G>T (p.=)
c.1818+1G>T (p.=)
c.2154+1G>T (p.=)
c.2157+1G>T (p.=)
c.1881+1G>T (p.=)
c.2043+1G>T (p.=)
c.2139+1G>T (p.=)
n.558+1G>T
c.2100+1G>T (p.=)
c.1932+1G>T (p.=)
21g.25891721C>GCA409805410APPc.2211+1G>C (p.=)
c.1986+1G>C (p.=)
c.1818+1G>C (p.=)
c.2154+1G>C (p.=)
c.2157+1G>C (p.=)
c.1881+1G>C (p.=)
c.2043+1G>C (p.=)
c.2139+1G>C (p.=)
n.558+1G>C
c.2100+1G>C (p.=)
c.1932+1G>C (p.=)
21g.25891721C>TCA409805408APPc.2211+1G>A (p.=)
c.1986+1G>A (p.=)
c.1818+1G>A (p.=)
c.2154+1G>A (p.=)
c.2157+1G>A (p.=)
c.1881+1G>A (p.=)
c.2043+1G>A (p.=)
c.2139+1G>A (p.=)
n.558+1G>A
c.2100+1G>A (p.=)
c.1932+1G>A (p.=)
21g.25891722C>ACA409805411APPc.2211G>T (p.Glu737Asp)
c.1986G>T (p.Glu662Asp)
c.1818G>T (p.Glu606Asp)
c.2154G>T (p.Glu718Asp)
c.2157G>T (p.Glu719Asp)
c.1881G>T (p.Glu627Asp)
c.2043G>T (p.Glu681Asp)
c.2139G>T (p.Glu713Asp)
n.558G>T
c.2100G>T (p.Glu700Asp)
c.1932G>T (p.Glu644Asp)
21g.25891722C>GCA409805412APPc.2211G>C (p.Glu737Asp)
c.1986G>C (p.Glu662Asp)
c.1818G>C (p.Glu606Asp)
c.2154G>C (p.Glu718Asp)
c.2157G>C (p.Glu719Asp)
c.1881G>C (p.Glu627Asp)
c.2043G>C (p.Glu681Asp)
c.2139G>C (p.Glu713Asp)
n.558G>C
c.2100G>C (p.Glu700Asp)
c.1932G>C (p.Glu644Asp)
21g.25891722C>TCA511685953APPc.2211G>A (p.Glu737=)
c.1986G>A (p.Glu662=)
c.1818G>A (p.Glu606=)
c.2154G>A (p.Glu718=)
c.2157G>A (p.Glu719=)
c.1881G>A (p.Glu627=)
c.2043G>A (p.Glu681=)
c.2139G>A (p.Glu713=)
n.558G>A
c.2100G>A (p.Glu700=)
c.1932G>A (p.Glu644=)
21g.25891723T>ACA409805413APPc.2210A>T (p.Glu737Val)
c.1985A>T (p.Glu662Val)
c.1817A>T (p.Glu606Val)
c.2153A>T (p.Glu718Val)
c.2156A>T (p.Glu719Val)
c.1880A>T (p.Glu627Val)
c.2042A>T (p.Glu681Val)
c.2138A>T (p.Glu713Val)
n.557A>T
c.2099A>T (p.Glu700Val)
c.1931A>T (p.Glu644Val)
21g.25891723T>CCA409805414APPc.2210A>G (p.Glu737Gly)
c.1985A>G (p.Glu662Gly)
c.1817A>G (p.Glu606Gly)
c.2153A>G (p.Glu718Gly)
c.2156A>G (p.Glu719Gly)
c.1880A>G (p.Glu627Gly)
c.2042A>G (p.Glu681Gly)
c.2138A>G (p.Glu713Gly)
n.557A>G
c.2099A>G (p.Glu700Gly)
c.1931A>G (p.Glu644Gly)
21g.25891723T>GCA409805415APPc.2210A>C (p.Glu737Ala)
c.1985A>C (p.Glu662Ala)
c.1817A>C (p.Glu606Ala)
c.2153A>C (p.Glu718Ala)
c.2156A>C (p.Glu719Ala)
c.1880A>C (p.Glu627Ala)
c.2042A>C (p.Glu681Ala)
c.2138A>C (p.Glu713Ala)
n.557A>C
c.2099A>C (p.Glu700Ala)
c.1931A>C (p.Glu644Ala)
21g.25891724C>ACA409805416APPc.2209G>T (p.Glu737Ter)
c.1984G>T (p.Glu662Ter)
c.1816G>T (p.Glu606Ter)
c.2152G>T (p.Glu718Ter)
c.2155G>T (p.Glu719Ter)
c.1879G>T (p.Glu627Ter)
c.2041G>T (p.Glu681Ter)
c.2137G>T (p.Glu713Ter)
n.556G>T
c.2098G>T (p.Glu700Ter)
c.1930G>T (p.Glu644Ter)
21g.25891724C>GCA409805417APPc.2209G>C (p.Glu737Gln)
c.1984G>C (p.Glu662Gln)
c.1816G>C (p.Glu606Gln)
c.2152G>C (p.Glu718Gln)
c.2155G>C (p.Glu719Gln)
c.1879G>C (p.Glu627Gln)
c.2041G>C (p.Glu681Gln)
c.2137G>C (p.Glu713Gln)
n.556G>C
c.2098G>C (p.Glu700Gln)
c.1930G>C (p.Glu644Gln)
21g.25891724C>TCA409805418APPc.2209G>A (p.Glu737Lys)
c.1984G>A (p.Glu662Lys)
c.1816G>A (p.Glu606Lys)
c.2152G>A (p.Glu718Lys)
c.2155G>A (p.Glu719Lys)
c.1879G>A (p.Glu627Lys)
c.2041G>A (p.Glu681Lys)
c.2137G>A (p.Glu713Lys)
n.556G>A
c.2098G>A (p.Glu700Lys)
c.1930G>A (p.Glu644Lys)
21g.25891725C>ACA511685954APPc.2208G>T (p.Val736=)
c.1983G>T (p.Val661=)
c.1815G>T (p.Val605=)
c.2151G>T (p.Val717=)
c.2154G>T (p.Val718=)
c.1878G>T (p.Val626=)
c.2040G>T (p.Val680=)
c.2136G>T (p.Val712=)
n.555G>T
c.2097G>T (p.Val699=)
c.1929G>T (p.Val643=)
21g.25891725C=CA2383551593APPc.2208G= (p.Val736=)
c.1983G= (p.Val661=)
c.1815G= (p.Val605=)
c.2151G= (p.Val717=)
c.2154G= (p.Val718=)
c.1878G= (p.Val626=)
c.2040G= (p.Val680=)
c.2136G= (p.Val712=)
n.555G=
c.2097G= (p.Val699=)
c.1929G= (p.Val643=)
21g.25891725C>GCA511685955APPc.2208G>C (p.Val736=)
c.1983G>C (p.Val661=)
c.1815G>C (p.Val605=)
c.2151G>C (p.Val717=)
c.2154G>C (p.Val718=)
c.1878G>C (p.Val626=)
c.2040G>C (p.Val680=)
c.2136G>C (p.Val712=)
n.555G>C
c.2097G>C (p.Val699=)
c.1929G>C (p.Val643=)
21g.25891725C>TCA9987047APPc.2208G>A (p.Val736=)
c.1983G>A (p.Val661=)
c.1815G>A (p.Val605=)
c.2151G>A (p.Val717=)
c.2154G>A (p.Val718=)
c.1878G>A (p.Val626=)
c.2040G>A (p.Val680=)
c.2136G>A (p.Val712=)
n.555G>A
c.2097G>A (p.Val699=)
c.1929G>A (p.Val643=)
dbSNP ExAC gnomAD
21g.25891726A>CCA409805419APPc.2207T>G (p.Val736Gly)
c.1982T>G (p.Val661Gly)
c.1814T>G (p.Val605Gly)
c.2150T>G (p.Val717Gly)
c.2153T>G (p.Val718Gly)
c.1877T>G (p.Val626Gly)
c.2039T>G (p.Val680Gly)
c.2135T>G (p.Val712Gly)
n.554T>G
c.2096T>G (p.Val699Gly)
c.1928T>G (p.Val643Gly)
21g.25891726A>GCA409805420APPc.2207T>C (p.Val736Ala)
c.1982T>C (p.Val661Ala)
c.1814T>C (p.Val605Ala)
c.2150T>C (p.Val717Ala)
c.2153T>C (p.Val718Ala)
c.1877T>C (p.Val626Ala)
c.2039T>C (p.Val680Ala)
c.2135T>C (p.Val712Ala)
n.554T>C
c.2096T>C (p.Val699Ala)
c.1928T>C (p.Val643Ala)
21g.25891726A>TCA409805421APPc.2207T>A (p.Val736Glu)
c.1982T>A (p.Val661Glu)
c.1814T>A (p.Val605Glu)
c.2150T>A (p.Val717Glu)
c.2153T>A (p.Val718Glu)
c.1877T>A (p.Val626Glu)
c.2039T>A (p.Val680Glu)
c.2135T>A (p.Val712Glu)
n.554T>A
c.2096T>A (p.Val699Glu)
c.1928T>A (p.Val643Glu)
21g.25891727C>ACA409805423APPc.2206G>T (p.Val736Leu)
c.1981G>T (p.Val661Leu)
c.1813G>T (p.Val605Leu)
c.2149G>T (p.Val717Leu)
c.2152G>T (p.Val718Leu)
c.1876G>T (p.Val626Leu)
c.2038G>T (p.Val680Leu)
c.2134G>T (p.Val712Leu)
n.553G>T
c.2095G>T (p.Val699Leu)
c.1927G>T (p.Val643Leu)
21g.25891727C>GCA409805424APPc.2206G>C (p.Val736Leu)
c.1981G>C (p.Val661Leu)
c.1813G>C (p.Val605Leu)
c.2149G>C (p.Val717Leu)
c.2152G>C (p.Val718Leu)
c.1876G>C (p.Val626Leu)
c.2038G>C (p.Val680Leu)
c.2134G>C (p.Val712Leu)
n.553G>C
c.2095G>C (p.Val699Leu)
c.1927G>C (p.Val643Leu)
21g.25891727C>TCA409805422APPc.2206G>A (p.Val736Met)
c.1981G>A (p.Val661Met)
c.1813G>A (p.Val605Met)
c.2149G>A (p.Val717Met)
c.2152G>A (p.Val718Met)
c.1876G>A (p.Val626Met)
c.2038G>A (p.Val680Met)
c.2134G>A (p.Val712Met)
n.553G>A
c.2095G>A (p.Val699Met)
c.1927G>A (p.Val643Met)
21g.25891728C>ACA511685957APPc.2205G>T (p.Val735=)
c.1980G>T (p.Val660=)
c.1812G>T (p.Val604=)
c.2148G>T (p.Val716=)
c.2151G>T (p.Val717=)
c.1875G>T (p.Val625=)
c.2037G>T (p.Val679=)
c.2133G>T (p.Val711=)
n.552G>T
c.2094G>T (p.Val698=)
c.1926G>T (p.Val642=)
21g.25891728C=CA2383551594APPc.2205G= (p.Val735=)
c.1980G= (p.Val660=)
c.1812G= (p.Val604=)
c.2148G= (p.Val716=)
c.2151G= (p.Val717=)
c.1875G= (p.Val625=)
c.2037G= (p.Val679=)
c.2133G= (p.Val711=)
n.552G=
c.2094G= (p.Val698=)
c.1926G= (p.Val642=)
21g.25891728C>GCA511685956APPc.2205G>C (p.Val735=)
c.1980G>C (p.Val660=)
c.1812G>C (p.Val604=)
c.2148G>C (p.Val716=)
c.2151G>C (p.Val717=)
c.1875G>C (p.Val625=)
c.2037G>C (p.Val679=)
c.2133G>C (p.Val711=)
n.552G>C
c.2094G>C (p.Val698=)
c.1926G>C (p.Val642=)
21g.25891728C>TCA511685958APPc.2205G>A (p.Val735=)
c.1980G>A (p.Val660=)
c.1812G>A (p.Val604=)
c.2148G>A (p.Val716=)
c.2151G>A (p.Val717=)
c.1875G>A (p.Val625=)
c.2037G>A (p.Val679=)
c.2133G>A (p.Val711=)
n.552G>A
c.2094G>A (p.Val698=)
c.1926G>A (p.Val642=)
21g.25891729A>CCA409805425APPc.2204T>G (p.Val735Gly)
c.1979T>G (p.Val660Gly)
c.1811T>G (p.Val604Gly)
c.2147T>G (p.Val716Gly)
c.2150T>G (p.Val717Gly)
c.1874T>G (p.Val625Gly)
c.2036T>G (p.Val679Gly)
c.2132T>G (p.Val711Gly)
n.551T>G
c.2093T>G (p.Val698Gly)
c.1925T>G (p.Val642Gly)
21g.25891729A>GCA409805426APPc.2204T>C (p.Val735Ala)
c.1979T>C (p.Val660Ala)
c.1811T>C (p.Val604Ala)
c.2147T>C (p.Val716Ala)
c.2150T>C (p.Val717Ala)
c.1874T>C (p.Val625Ala)
c.2036T>C (p.Val679Ala)
c.2132T>C (p.Val711Ala)
n.551T>C
c.2093T>C (p.Val698Ala)
c.1925T>C (p.Val642Ala)
21g.25891729A>TCA409805427APPc.2204T>A (p.Val735Glu)
c.1979T>A (p.Val660Glu)
c.1811T>A (p.Val604Glu)
c.2147T>A (p.Val716Glu)
c.2150T>A (p.Val717Glu)
c.1874T>A (p.Val625Glu)
c.2036T>A (p.Val679Glu)
c.2132T>A (p.Val711Glu)
n.551T>A
c.2093T>A (p.Val698Glu)
c.1925T>A (p.Val642Glu)
21g.25891730C>ACA409805428APPc.2203G>T (p.Val735Leu)
c.1978G>T (p.Val660Leu)
c.1810G>T (p.Val604Leu)
c.2146G>T (p.Val716Leu)
c.2149G>T (p.Val717Leu)
c.1873G>T (p.Val625Leu)
c.2035G>T (p.Val679Leu)
c.2131G>T (p.Val711Leu)
n.550G>T
c.2092G>T (p.Val698Leu)
c.1924G>T (p.Val642Leu)
21g.25891730C=CA2383551595APPc.2203G= (p.Val735=)
c.1978G= (p.Val660=)
c.1810G= (p.Val604=)
c.2146G= (p.Val716=)
c.2149G= (p.Val717=)
c.1873G= (p.Val625=)
c.2035G= (p.Val679=)
c.2131G= (p.Val711=)
n.550G=
c.2092G= (p.Val698=)
c.1924G= (p.Val642=)
21g.25891730C>GCA409805429APPc.2203G>C (p.Val735Leu)
c.1978G>C (p.Val660Leu)
c.1810G>C (p.Val604Leu)
c.2146G>C (p.Val716Leu)
c.2149G>C (p.Val717Leu)
c.1873G>C (p.Val625Leu)
c.2035G>C (p.Val679Leu)
c.2131G>C (p.Val711Leu)
n.550G>C
c.2092G>C (p.Val698Leu)
c.1924G>C (p.Val642Leu)
21g.25891730C>TCA409805430APPc.2203G>A (p.Val735Met)
c.1978G>A (p.Val660Met)
c.1810G>A (p.Val604Met)
c.2146G>A (p.Val716Met)
c.2149G>A (p.Val717Met)
c.1873G>A (p.Val625Met)
c.2035G>A (p.Val679Met)
c.2131G>A (p.Val711Met)
n.550G>A
c.2092G>A (p.Val698Met)
c.1924G>A (p.Val642Met)
gnomAD
21g.25891731A>CCA511685961APPc.2202T>G (p.Gly734=)
c.1977T>G (p.Gly659=)
c.1809T>G (p.Gly603=)
c.2145T>G (p.Gly715=)
c.2148T>G (p.Gly716=)
c.1872T>G (p.Gly624=)
c.2034T>G (p.Gly678=)
c.2130T>G (p.Gly710=)
n.549T>G
c.2091T>G (p.Gly697=)
c.1923T>G (p.Gly641=)
21g.25891731A>GCA511685960APPc.2202T>C (p.Gly734=)
c.1977T>C (p.Gly659=)
c.1809T>C (p.Gly603=)
c.2145T>C (p.Gly715=)
c.2148T>C (p.Gly716=)
c.1872T>C (p.Gly624=)
c.2034T>C (p.Gly678=)
c.2130T>C (p.Gly710=)
n.549T>C
c.2091T>C (p.Gly697=)
c.1923T>C (p.Gly641=)
21g.25891731A>TCA511685959APPc.2202T>A (p.Gly734=)
c.1977T>A (p.Gly659=)
c.1809T>A (p.Gly603=)
c.2145T>A (p.Gly715=)
c.2148T>A (p.Gly716=)
c.1872T>A (p.Gly624=)
c.2034T>A (p.Gly678=)
c.2130T>A (p.Gly710=)
n.549T>A
c.2091T>A (p.Gly697=)
c.1923T>A (p.Gly641=)
21g.25891732C>ACA409805431APPc.2201G>T (p.Gly734Val)
c.1976G>T (p.Gly659Val)
c.1808G>T (p.Gly603Val)
c.2144G>T (p.Gly715Val)
c.2147G>T (p.Gly716Val)
c.1871G>T (p.Gly624Val)
c.2033G>T (p.Gly678Val)
c.2129G>T (p.Gly710Val)
n.548G>T
c.2090G>T (p.Gly697Val)
c.1922G>T (p.Gly641Val)
21g.25891732C=CA2383551596APPc.2201G= (p.Gly734=)
c.1976G= (p.Gly659=)
c.1808G= (p.Gly603=)
c.2144G= (p.Gly715=)
c.2147G= (p.Gly716=)
c.1871G= (p.Gly624=)
c.2033G= (p.Gly678=)
c.2129G= (p.Gly710=)
n.548G=
c.2090G= (p.Gly697=)
c.1922G= (p.Gly641=)
21g.25891732C>GCA409805433APPc.2201G>C (p.Gly734Ala)
c.1976G>C (p.Gly659Ala)
c.1808G>C (p.Gly603Ala)
c.2144G>C (p.Gly715Ala)
c.2147G>C (p.Gly716Ala)
c.1871G>C (p.Gly624Ala)
c.2033G>C (p.Gly678Ala)
c.2129G>C (p.Gly710Ala)
n.548G>C
c.2090G>C (p.Gly697Ala)
c.1922G>C (p.Gly641Ala)
21g.25891732C>TCA409805432APPc.2201G>A (p.Gly734Asp)
c.1976G>A (p.Gly659Asp)
c.1808G>A (p.Gly603Asp)
c.2144G>A (p.Gly715Asp)
c.2147G>A (p.Gly716Asp)
c.1871G>A (p.Gly624Asp)
c.2033G>A (p.Gly678Asp)
c.2129G>A (p.Gly710Asp)
n.548G>A
c.2090G>A (p.Gly697Asp)
c.1922G>A (p.Gly641Asp)
21g.25891733C>ACA409805434APPc.2200G>T (p.Gly734Cys)
c.1975G>T (p.Gly659Cys)
c.1807G>T (p.Gly603Cys)
c.2143G>T (p.Gly715Cys)
c.2146G>T (p.Gly716Cys)
c.1870G>T (p.Gly624Cys)
c.2032G>T (p.Gly678Cys)
c.2128G>T (p.Gly710Cys)
n.547G>T
c.2089G>T (p.Gly697Cys)
c.1921G>T (p.Gly641Cys)
21g.25891733C>GCA409805435APPc.2200G>C (p.Gly734Arg)
c.1975G>C (p.Gly659Arg)
c.1807G>C (p.Gly603Arg)
c.2143G>C (p.Gly715Arg)
c.2146G>C (p.Gly716Arg)
c.1870G>C (p.Gly624Arg)
c.2032G>C (p.Gly678Arg)
c.2128G>C (p.Gly710Arg)
n.547G>C
c.2089G>C (p.Gly697Arg)
c.1921G>C (p.Gly641Arg)
21g.25891733C>TCA409805436APPc.2200G>A (p.Gly734Ser)
c.1975G>A (p.Gly659Ser)
c.1807G>A (p.Gly603Ser)
c.2143G>A (p.Gly715Ser)
c.2146G>A (p.Gly716Ser)
c.1870G>A (p.Gly624Ser)
c.2032G>A (p.Gly678Ser)
c.2128G>A (p.Gly710Ser)
n.547G>A
c.2089G>A (p.Gly697Ser)
c.1921G>A (p.Gly641Ser)
21g.25891733_25891734dupCA2383551597APPc.2199_2200dup (p.Gly734ValfsTer?)
c.1974_1975dup (p.Gly659ValfsTer?)
c.1806_1807dup (p.Gly603ValfsTer?)
c.2142_2143dup (p.Gly715ValfsTer?)
c.2145_2146dup (p.Gly716ValfsTer?)
c.1869_1870dup (p.Gly624ValfsTer?)
c.2031_2032dup (p.Gly678ValfsTer?)
c.2127_2128dup (p.Gly710ValfsTer?)
n.546_547dup
c.2088_2089dup (p.Gly697ValfsTer?)
c.1920_1921dup (p.Gly641ValfsTer?)
dbSNP
21g.25891734A=CA2383551598APPc.2199T= (p.His733=)
c.1974T= (p.His658=)
c.1806T= (p.His602=)
c.2142T= (p.His714=)
c.2145T= (p.His715=)
c.1869T= (p.His623=)
c.2031T= (p.His677=)
c.2127T= (p.His709=)
n.546T=
c.2088T= (p.His696=)
c.1920T= (p.His640=)
21g.25891734A>CCA409805437APPc.2199T>G (p.His733Gln)
c.1974T>G (p.His658Gln)
c.1806T>G (p.His602Gln)
c.2142T>G (p.His714Gln)
c.2145T>G (p.His715Gln)
c.1869T>G (p.His623Gln)
c.2031T>G (p.His677Gln)
c.2127T>G (p.His709Gln)
n.546T>G
c.2088T>G (p.His696Gln)
c.1920T>G (p.His640Gln)

Number of alleles fetched